The DOI matches its Crossref record; 29 of the 29 references it cites were found in a registry or an index.
Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Open accessAbstract
Purpose The purpose of the study was to implement and prospectively evaluate the outcomes of a rapid genomic diagnosis program at two pediatric tertiary centers.Methods Rapid singleton whole-exome sequencing (rWES) was performed in acutely unwell pediatric patients with suspected monogenic disorders. Laboratory and clinical barriers to implementation were addressed through continuous multidisciplinary review of process parameters. Diagnostic and clinical utility and cost-effectiveness of rWES were assessed.Results Of 40 enrolled patients, 21 (52.5%) received a diagnosis, with median time to report of 16 days (range 9-109 days). A result was provided during the first hospital admission in 28 of 36 inpatients (78%). Clinical management changed in 12 of the 21 diagnosed patients (57%), including the provision of lifesaving treatment, avoidance of invasive biopsies, and palliative care guidance. The cost per diagnosis was AU$13,388 (US$10,453). Additional cost savings from avoidance of planned tests and procedures and reduced length of stay are estimated to be around AU$543,178 (US$424,101). The clear relative advantage of rWES, joint clinical and laboratory leadership, and the creation of a multidisciplinary "rapid team" were key to successful implementation.Conclusion Rapid genomic testing in acute pediatrics is not only feasible but also cost-effective, and has high diagnostic and clinical utility. It requires a whole-of-system approach for successful implementation.
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“The lack of health care funding, the underpreparedness of the pediatric workforce, and the resource-intensive nature of rapid testing represent significant barriers to widespread adoption.”
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“with a 3-fold reduction in the mean time from hospital admission to molecular diagnosis compared with the prior Australian rapid exome sequencing study 8 conducted in 2016-2017 at 2 centers.”
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“rapid genomic testing challenges all the components of the clinical and laboratory pathway, necessitating timely patient identification, skilled assessment, appropriate counseling, and a high degree of communication and coordination in emotionally charged and rapidly evolving clinical situations.”
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“A greater proportion of reports were returned prior to hospital discharge or death and the reports formed part of the palliative care decisions in a greater proportion of the patients who died.”
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Metadata
- Authors
- Stark, Z., Lunke, S., Brett, G. R., Tan, N. B., Stapleton, R., Kumble, S., Yeung, A., Phelan, D. G., Chong, B., Fanjul-Fernandez, M., Marum, J. E., Hunter, M., Jarmolowicz, A., Prawer, Y., Riseley, J. R., Regan, M., Elliott, J., Martyn, M., Best, S., Tan, T. Y., Gaff, C. L., & White, S. M.
- Affiliations
- The University of Melbourne (AU)
- Victorian Clinical Genetics Services (AU)
- Monash Children’s Hospital (AU)
- Macquarie University (AU)
- Corresponding author
- Stark, Zornitza
- ORCID
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2018-12
- Volume
- 20
- Issue
- 12
- Pages
- 1554-1563
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2793936903
- Cited by
- 159
- References
- 29
- Citations by year
- 2026: 6 · 2025: 16 · 2024: 15 · 2023: 13 · 2022: 27 · 2021: 19 · 2020: 32 · 2019: 24 · 2018: 6
- FWCI
- 12.42
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Keywords
- exome sequencing, monogenic disorders, diagnostic yield, time to diagnosis, cost-effectiveness, implementation barriers, clinical utility, length of hospital stay
- MeSH terms
- Exome Sequencing, Cost-Benefit Analysis, Female, Genetic Testing, Humans, Male, Pediatrics, Genome, Human, Genomics, Pathology, Molecular, Exome
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